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Article

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.

Human mutation - 1 Jan 1995

Tromp G, De Paepe A, Nuytinck L, Madhatheri S, Kuivaniemi H

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Source

Identifiers

PMID: 7749417
DOI: 10.1002/humu.1380050213

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV.PMID 7749417Read ↗

Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

A type III collagen Gly559 to Arg helix mutation in Ehler's-Danlos syndrome type IV.Semantic proximity Read ↗

A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis.Semantic proximity Read ↗

A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

In this issue: glycine substitution mutations in the COL7A1 gene: implications for inheritance of dystrophic epidermolysis bullosa - dominant vs. recessive.Semantic proximity Read ↗

Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa.Semantic proximity Read ↗

Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.Semantic proximity Read ↗

Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.Semantic proximity Read ↗

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

Identification of the glycine-to-arginine substitution G2043R in type VII collagen in a family with dominant dystrophic epidermolysis bullosa from Hungary.Semantic proximity Read ↗

Mutations in human procollagen genes. Consequences of the mutations in man and in transgenic mice.Semantic proximity Read ↗

A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.Semantic proximity Read ↗

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